SNTG2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.14077072
2L-phenylalanine catabolic process (GO:0006559)7.14077072
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.81252670
4L-phenylalanine metabolic process (GO:0006558)6.81252670
5aromatic amino acid family catabolic process (GO:0009074)6.41942136
6indole-containing compound catabolic process (GO:0042436)5.88680289
7indolalkylamine catabolic process (GO:0046218)5.88680289
8tryptophan catabolic process (GO:0006569)5.88680289
9bile acid biosynthetic process (GO:0006699)5.83405441
10kynurenine metabolic process (GO:0070189)5.77019050
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.71674142
12high-density lipoprotein particle remodeling (GO:0034375)5.52139457
13tryptophan metabolic process (GO:0006568)5.47762974
14alpha-linolenic acid metabolic process (GO:0036109)5.33764260
15glyoxylate metabolic process (GO:0046487)5.28280626
16urea cycle (GO:0000050)5.22414156
17urea metabolic process (GO:0019627)5.22414156
18regulation of protein activation cascade (GO:2000257)5.19797333
19complement activation, alternative pathway (GO:0006957)5.18300118
20negative regulation of fibrinolysis (GO:0051918)5.06365422
21protein carboxylation (GO:0018214)4.97374218
22peptidyl-glutamic acid carboxylation (GO:0017187)4.97374218
23regulation of fibrinolysis (GO:0051917)4.97289935
24bile acid metabolic process (GO:0008206)4.96303089
25sulfur amino acid catabolic process (GO:0000098)4.91770091
26cysteine metabolic process (GO:0006534)4.88823226
27regulation of complement activation (GO:0030449)4.87394194
28reverse cholesterol transport (GO:0043691)4.77649140
29nitrogen cycle metabolic process (GO:0071941)4.77117489
30fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.66340748
31serine family amino acid catabolic process (GO:0009071)4.63624926
32negative regulation of sterol transport (GO:0032372)4.62913700
33negative regulation of cholesterol transport (GO:0032375)4.62913700
34aromatic amino acid family metabolic process (GO:0009072)4.61782452
35behavioral response to nicotine (GO:0035095)4.61540830
36macromolecular complex remodeling (GO:0034367)4.57563067
37plasma lipoprotein particle remodeling (GO:0034369)4.57563067
38protein-lipid complex remodeling (GO:0034368)4.57563067
39coenzyme catabolic process (GO:0009109)4.45819333
40acylglycerol homeostasis (GO:0055090)4.42001877
41triglyceride homeostasis (GO:0070328)4.42001877
42regulation of cholesterol esterification (GO:0010872)4.37705737
43tyrosine metabolic process (GO:0006570)4.33915929
44homocysteine metabolic process (GO:0050667)4.32722958
45alpha-amino acid catabolic process (GO:1901606)4.32206823
46cellular ketone body metabolic process (GO:0046950)4.28160751
47amino-acid betaine metabolic process (GO:0006577)4.25413251
48regulation of triglyceride catabolic process (GO:0010896)4.24384305
49lysine metabolic process (GO:0006553)4.23833159
50lysine catabolic process (GO:0006554)4.23833159
51pyrimidine nucleobase catabolic process (GO:0006208)4.22846791
52bile acid and bile salt transport (GO:0015721)4.19344996
53cholesterol efflux (GO:0033344)4.18327687
54glutamate metabolic process (GO:0006536)4.14979244
55phospholipid efflux (GO:0033700)4.14326101
56indolalkylamine metabolic process (GO:0006586)4.12192756
57plasma lipoprotein particle clearance (GO:0034381)4.10042139
58response to pheromone (GO:0019236)4.08042601
59dicarboxylic acid biosynthetic process (GO:0043650)4.06604644
60imidazole-containing compound metabolic process (GO:0052803)4.05132347
61cellular biogenic amine catabolic process (GO:0042402)3.97423278
62amine catabolic process (GO:0009310)3.97423278
63cellular amino acid catabolic process (GO:0009063)3.97114697
64regulation of bile acid biosynthetic process (GO:0070857)3.95107491
65cellular modified amino acid catabolic process (GO:0042219)3.84648964
66cellular glucuronidation (GO:0052695)3.81240934
67cytolysis (GO:0019835)3.80610924
68benzene-containing compound metabolic process (GO:0042537)3.80387256
69adaptation of signaling pathway (GO:0023058)3.80245654
70platelet dense granule organization (GO:0060155)3.79436374
71short-chain fatty acid metabolic process (GO:0046459)3.78413839
72drug catabolic process (GO:0042737)3.74314729
73regulation of cholesterol homeostasis (GO:2000188)3.72142963
74ketone body metabolic process (GO:1902224)3.69777876
75glycine metabolic process (GO:0006544)3.69477510
76complement activation, classical pathway (GO:0006958)3.69414606
77nucleobase catabolic process (GO:0046113)3.68417497
78arginine metabolic process (GO:0006525)3.63485531
79ethanol oxidation (GO:0006069)3.63119070
80negative regulation of lipase activity (GO:0060192)3.62525478
81fibrinolysis (GO:0042730)3.61563756
82serine family amino acid metabolic process (GO:0009069)3.60983071
83low-density lipoprotein particle remodeling (GO:0034374)3.60846598
84complement activation (GO:0006956)3.56064085
85plasma lipoprotein particle assembly (GO:0034377)3.56023271
86piRNA metabolic process (GO:0034587)3.55976980
87phospholipid homeostasis (GO:0055091)3.51730400
88protein activation cascade (GO:0072376)3.49934010
89blood coagulation, intrinsic pathway (GO:0007597)3.49090292
90cofactor catabolic process (GO:0051187)3.48516367
91organic acid catabolic process (GO:0016054)3.47337080
92carboxylic acid catabolic process (GO:0046395)3.47337080
93negative regulation of protein activation cascade (GO:2000258)3.45490779
94very-low-density lipoprotein particle assembly (GO:0034379)3.44251539
95acetyl-CoA metabolic process (GO:0006084)3.43944259
96plasma lipoprotein particle organization (GO:0071827)3.40921920
97axoneme assembly (GO:0035082)3.40782847
98positive regulation of lipid catabolic process (GO:0050996)3.39943863
99opsonization (GO:0008228)3.37853256
100uronic acid metabolic process (GO:0006063)3.34705696
101glucuronate metabolic process (GO:0019585)3.34705696
102dopamine transport (GO:0015872)3.34441466
103cholesterol homeostasis (GO:0042632)3.34396872
104proline transport (GO:0015824)3.32450704
105aldehyde catabolic process (GO:0046185)3.30396215
106sterol homeostasis (GO:0055092)3.29264497
107pyrimidine nucleoside catabolic process (GO:0046135)3.29127851
108aspartate family amino acid catabolic process (GO:0009068)3.28624327
109monocarboxylic acid catabolic process (GO:0072329)3.26376236
110fatty acid oxidation (GO:0019395)3.25864866
111protein complex biogenesis (GO:0070271)3.25188911
112mitochondrial respiratory chain complex I assembly (GO:0032981)3.24123580
113NADH dehydrogenase complex assembly (GO:0010257)3.24123580
114mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.24123580
115presynaptic membrane assembly (GO:0097105)3.22918127
116regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.22068412
117regulation of posttranscriptional gene silencing (GO:0060147)3.19055106
118regulation of gene silencing by miRNA (GO:0060964)3.19055106
119regulation of gene silencing by RNA (GO:0060966)3.19055106
120water-soluble vitamin biosynthetic process (GO:0042364)3.16094336
121DNA methylation involved in gamete generation (GO:0043046)3.15106240
122acrosome reaction (GO:0007340)3.14056921
123DNA double-strand break processing (GO:0000729)3.13830682
124regulation of glucokinase activity (GO:0033131)3.11434036
125regulation of hexokinase activity (GO:1903299)3.11434036
126detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.10075842
127negative regulation of cytosolic calcium ion concentration (GO:0051481)3.10075737
128kidney morphogenesis (GO:0060993)3.07439780
129sperm motility (GO:0030317)3.06505858
130protein-cofactor linkage (GO:0018065)3.05333757
131detection of light stimulus involved in sensory perception (GO:0050962)3.05249790
132detection of light stimulus involved in visual perception (GO:0050908)3.05249790
133protein polyglutamylation (GO:0018095)3.05218091
134gamma-aminobutyric acid transport (GO:0015812)3.03910428
135regulation of telomere maintenance (GO:0032204)3.03223752
136mitochondrial respiratory chain complex assembly (GO:0033108)2.99831589
137behavioral response to ethanol (GO:0048149)2.99016972
138protein localization to cilium (GO:0061512)2.98684094
139regulation of meiosis I (GO:0060631)2.96419944
140fucose catabolic process (GO:0019317)2.95598158
141L-fucose metabolic process (GO:0042354)2.95598158
142L-fucose catabolic process (GO:0042355)2.95598158
143regulation of action potential (GO:0098900)2.95249657
144somite rostral/caudal axis specification (GO:0032525)2.94382693
145organic cation transport (GO:0015695)2.90626523
146regulation of nuclear cell cycle DNA replication (GO:0033262)2.86583166
147single strand break repair (GO:0000012)2.83989670
148epithelial cilium movement (GO:0003351)2.83897516
149G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.80381739
150multicellular organism reproduction (GO:0032504)2.80202244
151alanine transport (GO:0032328)2.79048712
152cilium morphogenesis (GO:0060271)2.78994611
153C4-dicarboxylate transport (GO:0015740)2.77476864
154reflex (GO:0060004)2.77466918
155regulation of rhodopsin mediated signaling pathway (GO:0022400)2.77463507
156positive regulation of meiosis (GO:0045836)2.77140643
157glycerophospholipid catabolic process (GO:0046475)2.75935005
158photoreceptor cell maintenance (GO:0045494)2.73953553
159presynaptic membrane organization (GO:0097090)2.72920628
160serotonin receptor signaling pathway (GO:0007210)2.72167997
161neural tube formation (GO:0001841)2.72154365
162respiratory chain complex IV assembly (GO:0008535)2.71033943
163centriole replication (GO:0007099)2.68000908
164atrial cardiac muscle cell action potential (GO:0086014)2.66272064
165protein K11-linked deubiquitination (GO:0035871)2.64536009
166rhodopsin mediated signaling pathway (GO:0016056)2.64252108
167calcium ion-dependent exocytosis (GO:0017156)2.63935689
168tachykinin receptor signaling pathway (GO:0007217)2.60332672
169transmission of nerve impulse (GO:0019226)2.57790366
170positive regulation of meiotic cell cycle (GO:0051446)2.57037945
171neuronal action potential (GO:0019228)2.53264486
172negative regulation of telomere maintenance (GO:0032205)2.51825614
173signal peptide processing (GO:0006465)2.49358671
174DNA deamination (GO:0045006)2.47772790
175reciprocal meiotic recombination (GO:0007131)2.46727291
176reciprocal DNA recombination (GO:0035825)2.46727291
177postsynaptic membrane organization (GO:0001941)2.46689456
178nonmotile primary cilium assembly (GO:0035058)2.44468824
179negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.43954349
180negative regulation of translation, ncRNA-mediated (GO:0040033)2.43954349
181regulation of translation, ncRNA-mediated (GO:0045974)2.43954349
182preassembly of GPI anchor in ER membrane (GO:0016254)2.43742147
183cilium movement (GO:0003341)2.41822561
184protein neddylation (GO:0045116)2.41483684
185anterograde synaptic vesicle transport (GO:0048490)2.40725788
186male meiosis I (GO:0007141)2.38910226
187L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.38716166
188arginine catabolic process (GO:0006527)2.38417420
189regulation of telomere maintenance via telomerase (GO:0032210)2.37326322
190sulfation (GO:0051923)2.36766676
191cytochrome complex assembly (GO:0017004)2.35007367
192retinal cone cell development (GO:0046549)2.34878500

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.85857012
2RXR_22158963_ChIP-Seq_LIVER_Mouse7.01478016
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.84673048
4* EGR1_23403033_ChIP-Seq_LIVER_Mouse5.55996104
5LXR_22158963_ChIP-Seq_LIVER_Mouse5.47271722
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.55455354
7NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.75768995
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.73311918
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.55812959
10ZNF274_21170338_ChIP-Seq_K562_Hela3.54392371
11EZH2_22144423_ChIP-Seq_EOC_Human3.07806524
12CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.03550429
13VDR_22108803_ChIP-Seq_LS180_Human2.79735316
14POU3F2_20337985_ChIP-ChIP_501MEL_Human2.35003500
15SALL1_21062744_ChIP-ChIP_HESCs_Human2.27613297
16FUS_26573619_Chip-Seq_HEK293_Human2.09173730
17EWS_26573619_Chip-Seq_HEK293_Human2.00834667
18FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.00378101
19FLI1_27457419_Chip-Seq_LIVER_Mouse2.00303192
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.92424859
21KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.77877815
22MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.70719192
23TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.70589234
24ER_23166858_ChIP-Seq_MCF-7_Human1.68237073
25FOXA2_19822575_ChIP-Seq_HepG2_Human1.68077665
26PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.67706959
27HTT_18923047_ChIP-ChIP_STHdh_Human1.67528605
28TAF15_26573619_Chip-Seq_HEK293_Human1.62445994
29PCGF2_27294783_Chip-Seq_ESCs_Mouse1.60117469
30GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60100730
31EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.58454526
32GBX2_23144817_ChIP-Seq_PC3_Human1.50476673
33RBPJ_22232070_ChIP-Seq_NCS_Mouse1.46334554
34MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43886276
35KLF5_20875108_ChIP-Seq_MESCs_Mouse1.43513049
36TP53_22573176_ChIP-Seq_HFKS_Human1.42973004
37ESR1_15608294_ChIP-ChIP_MCF-7_Human1.42296299
38* TCF4_23295773_ChIP-Seq_U87_Human1.42069767
39NANOG_19829295_ChIP-Seq_ESCs_Human1.40744918
40SOX2_19829295_ChIP-Seq_ESCs_Human1.40744918
41CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38698510
42BMI1_23680149_ChIP-Seq_NPCS_Mouse1.37769135
43TCF4_22108803_ChIP-Seq_LS180_Human1.37183137
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.36666445
45IRF1_19129219_ChIP-ChIP_H3396_Human1.35285501
46* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.34914028
47* RUNX2_22187159_ChIP-Seq_PCA_Human1.34406960
48NR3C1_21868756_ChIP-Seq_MCF10A_Human1.33141178
49EST1_17652178_ChIP-ChIP_JURKAT_Human1.32925676
50E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.32820047
51GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.32791928
52MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.31984284
53GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.31256647
54FOXA1_25329375_ChIP-Seq_VCAP_Human1.30216733
55FOXA1_27270436_Chip-Seq_PROSTATE_Human1.30216733
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.27003269
57GABP_17652178_ChIP-ChIP_JURKAT_Human1.26890667
58TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26306264
59HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.26127977
60* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26106215
61FOXA1_21572438_ChIP-Seq_LNCaP_Human1.25634141
62HNF4A_19822575_ChIP-Seq_HepG2_Human1.25357537
63MYC_18940864_ChIP-ChIP_HL60_Human1.23085929
64TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22473932
65ETV2_25802403_ChIP-Seq_MESCs_Mouse1.21710056
66NOTCH1_21737748_ChIP-Seq_TLL_Human1.20734640
67NFE2_27457419_Chip-Seq_LIVER_Mouse1.20057024
68ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.18788113
69PCGF2_27294783_Chip-Seq_NPCs_Mouse1.18701866
70NCOR_22424771_ChIP-Seq_293T_Human1.18602228
71EZH2_27294783_Chip-Seq_NPCs_Mouse1.18124518
72GATA1_22025678_ChIP-Seq_K562_Human1.17366948
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15489071
74TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14832636
75CLOCK_20551151_ChIP-Seq_293T_Human1.13813708
76NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.13684678
77NANOG_18555785_Chip-Seq_ESCs_Mouse1.12882567
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.09432496
79EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09300693
80PRDM14_20953172_ChIP-Seq_ESCs_Human1.08940752
81HOXB7_26014856_ChIP-Seq_BT474_Human1.08908481
82GATA3_21878914_ChIP-Seq_MCF-7_Human1.07802573
83EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.07370620
84NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.07110585
85* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05638459
86CBX2_27304074_Chip-Seq_ESCs_Mouse1.05349436
87RNF2_27304074_Chip-Seq_NSC_Mouse1.05114269
88P53_22387025_ChIP-Seq_ESCs_Mouse1.04760868
89TAL1_26923725_Chip-Seq_HPCs_Mouse1.04043972
90STAT3_18555785_Chip-Seq_ESCs_Mouse1.02252655
91ELK1_19687146_ChIP-ChIP_HELA_Human1.01849530
92CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.01054891
93SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.00498176
94CRX_20693478_ChIP-Seq_RETINA_Mouse0.99538284
95* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97681618
96* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97484929
97SMAD3_21741376_ChIP-Seq_ESCs_Human0.96864456
98THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.96666370
99JUN_21703547_ChIP-Seq_K562_Human0.96287259
100CDX2_22108803_ChIP-Seq_LS180_Human0.95568126
101RXRA_24833708_ChIP-Seq_LIVER_Mouse0.93641862
102SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.91853788
103ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85693206
104AR_21572438_ChIP-Seq_LNCaP_Human0.85620759
105* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85176600
106AUTS2_25519132_ChIP-Seq_293T-REX_Human0.84213230
107MTF2_20144788_ChIP-Seq_MESCs_Mouse0.83996485
108NRF2_20460467_ChIP-Seq_MEFs_Mouse0.83019062
109NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.83019062
110STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.82856127
111ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.82835505
112* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.82682153
113* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.81605785
114ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.81004656
115EZH2_27294783_Chip-Seq_ESCs_Mouse0.79839150
116BCAT_22108803_ChIP-Seq_LS180_Human0.79155361
117ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.78603573
118SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.77119153
119PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.74206065
120CTBP2_25329375_ChIP-Seq_LNCAP_Human0.73025047
121SMAD4_21799915_ChIP-Seq_A2780_Human0.72065108
122KAP1_22055183_ChIP-Seq_ESCs_Mouse0.70983607
123CTBP1_25329375_ChIP-Seq_LNCAP_Human0.70074981
124SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.69978413
125SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.69246771
126PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.67649945
127SMAD4_21741376_ChIP-Seq_HESCs_Human0.67270554
128JARID2_20075857_ChIP-Seq_MESCs_Mouse0.67040706
129REST_21632747_ChIP-Seq_MESCs_Mouse0.67026863
130IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.67016448
131CBP_20019798_ChIP-Seq_JUKART_Human0.67016448
132MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.66461342
133EZH2_18974828_ChIP-Seq_MESCs_Mouse0.65278101
134RNF2_18974828_ChIP-Seq_MESCs_Mouse0.65278101
135DNAJC2_21179169_ChIP-ChIP_NT2_Human0.64552539
136* ZFP57_27257070_Chip-Seq_ESCs_Mouse0.64307168
137SMAD4_21741376_ChIP-Seq_EPCs_Human0.63968072
138IGF1R_20145208_ChIP-Seq_DFB_Human0.62965586
139AR_25329375_ChIP-Seq_VCAP_Human0.62733230
140CBP_21632823_ChIP-Seq_H3396_Human0.62511234
141EED_16625203_ChIP-ChIP_MESCs_Mouse0.62308862
142* SOX2_21211035_ChIP-Seq_LN229_Gbm0.62074421
143ZNF217_24962896_ChIP-Seq_MCF-7_Human0.62021725
144DROSHA_22980978_ChIP-Seq_HELA_Human0.60236396
145MYC_27129775_Chip-Seq_CORNEA_Mouse0.60144705
146UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.59195627
147SUZ12_27294783_Chip-Seq_ESCs_Mouse0.59179654
148* REST_18959480_ChIP-ChIP_MESCs_Mouse0.59177852
149NR3C1_23031785_ChIP-Seq_PC12_Mouse0.59096820
150* P300_19829295_ChIP-Seq_ESCs_Human0.59078943
151SOX2_27498859_Chip-Seq_STOMACH_Mouse0.58544076
152STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.58521991
153CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.57708793
154ERG_21242973_ChIP-ChIP_JURKAT_Human0.57646571
155* AR_19668381_ChIP-Seq_PC3_Human0.57527811
156GATA4_25053715_ChIP-Seq_YYC3_Human0.57012979
157BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.56984099
158RAD21_21589869_ChIP-Seq_MESCs_Mouse0.55674272
159MYC_19915707_ChIP-ChIP_AK7_Human0.55528943
160* SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.55417140
161AR_20517297_ChIP-Seq_VCAP_Human0.55096716
162KDM2B_26808549_Chip-Seq_REH_Human0.55064139
163ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.54562833
164ESR2_21235772_ChIP-Seq_MCF-7_Human0.54483012
165CTCF_27219007_Chip-Seq_Bcells_Human0.54331793
166NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.54130393
167TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.53994917
168POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.53994917
169* STAT3_23295773_ChIP-Seq_U87_Human0.53805074
170FOXA1_25552417_ChIP-Seq_VCAP_Human0.53693946

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.04511270
2MP0005360_urolithiasis7.08750024
3MP0005085_abnormal_gallbladder_physiolo6.31291487
4MP0005365_abnormal_bile_salt6.07425409
5MP0008875_abnormal_xenobiotic_pharmacok4.90909071
6MP0003252_abnormal_bile_duct3.80905417
7MP0003806_abnormal_nucleotide_metabolis3.51304538
8MP0008877_abnormal_DNA_methylation3.45191395
9MP0010329_abnormal_lipoprotein_level3.44060883
10MP0003136_yellow_coat_color2.86831166
11MP0005083_abnormal_biliary_tract2.81246500
12MP0005332_abnormal_amino_acid2.74482190
13MP0003195_calcinosis2.70877463
14MP0009840_abnormal_foam_cell2.70679557
15MP0003787_abnormal_imprinting2.64335567
16MP0001666_abnormal_nutrient_absorption2.61423198
17MP0001986_abnormal_taste_sensitivity2.31758863
18MP0003011_delayed_dark_adaptation2.25155271
19MP0004019_abnormal_vitamin_homeostasis2.21989047
20MP0002102_abnormal_ear_morphology2.10422211
21MP0003880_abnormal_central_pattern2.10273763
22MP0001529_abnormal_vocalization2.07677363
23MP0002118_abnormal_lipid_homeostasis2.06484665
24MP0003868_abnormal_feces_composition2.06362324
25MP0009046_muscle_twitch1.99818953
26MP0000609_abnormal_liver_physiology1.97672742
27MP0000372_irregular_coat_pigmentation1.93025095
28MP0003191_abnormal_cellular_cholesterol1.87891021
29MP0003890_abnormal_embryonic-extraembry1.83666264
30MP0003646_muscle_fatigue1.83599835
31MP0005551_abnormal_eye_electrophysiolog1.82668343
32MP0005645_abnormal_hypothalamus_physiol1.81163587
33MP0003718_maternal_effect1.76320605
34MP0004142_abnormal_muscle_tone1.74253331
35MP0002138_abnormal_hepatobiliary_system1.72507606
36MP0001764_abnormal_homeostasis1.71950335
37MP0001968_abnormal_touch/_nociception1.71268189
38MP0002272_abnormal_nervous_system1.70417241
39MP0005410_abnormal_fertilization1.69517721
40MP0002653_abnormal_ependyma_morphology1.68711626
41MP0005319_abnormal_enzyme/_coenzyme1.65966030
42MP0001486_abnormal_startle_reflex1.64287800
43MP0004147_increased_porphyrin_level1.61394538
44MP0001485_abnormal_pinna_reflex1.57934071
45MP0002638_abnormal_pupillary_reflex1.57461365
46MP0002735_abnormal_chemical_nociception1.56050226
47MP0003121_genomic_imprinting1.55337120
48MP0004133_heterotaxia1.52151585
49MP0006292_abnormal_olfactory_placode1.51735885
50MP0003122_maternal_imprinting1.47895309
51MP0005075_abnormal_melanosome_morpholog1.45449082
52MP0005584_abnormal_enzyme/coenzyme_acti1.39221159
53MP0003878_abnormal_ear_physiology1.38330146
54MP0005377_hearing/vestibular/ear_phenot1.38330146
55MP0000631_abnormal_neuroendocrine_gland1.38029709
56MP0000569_abnormal_digit_pigmentation1.36655666
57MP0002876_abnormal_thyroid_physiology1.36081062
58MP0000427_abnormal_hair_cycle1.34294400
59MP0005379_endocrine/exocrine_gland_phen1.30782991
60MP0002572_abnormal_emotion/affect_behav1.30451379
61MP0009697_abnormal_copulation1.29443415
62MP0002736_abnormal_nociception_after1.28373261
63MP0002938_white_spotting1.28225673
64MP0002090_abnormal_vision1.24711151
65MP0002064_seizures1.24004235
66MP0001970_abnormal_pain_threshold1.23867277
67MP0002557_abnormal_social/conspecific_i1.22625935
68MP0005451_abnormal_body_composition1.20607584
69MP0002822_catalepsy1.19584682
70MP0002734_abnormal_mechanical_nocicepti1.17438772
71MP0002733_abnormal_thermal_nociception1.16384416
72MP0003635_abnormal_synaptic_transmissio1.16238876
73MP0002067_abnormal_sensory_capabilities1.16234939
74MP0004924_abnormal_behavior1.15368639
75MP0005386_behavior/neurological_phenoty1.15368639
76MP0002132_abnormal_respiratory_system1.10081453
77MP0005647_abnormal_sex_gland1.09658747
78MP0009643_abnormal_urine_homeostasis1.08888394
79MP0001188_hyperpigmentation1.03199037
80MP0004742_abnormal_vestibular_system1.01925262
81MP0002063_abnormal_learning/memory/cond0.99776295
82MP0000604_amyloidosis0.99706967
83MP0003698_abnormal_male_reproductive0.99510848
84MP0004885_abnormal_endolymph0.99360840
85MP0004270_analgesia0.97359848
86MP0005167_abnormal_blood-brain_barrier0.96738443
87MP0008995_early_reproductive_senescence0.95610825
88MP0002078_abnormal_glucose_homeostasis0.94566993
89MP0005084_abnormal_gallbladder_morpholo0.94151681
90MP0003137_abnormal_impulse_conducting0.94095386
91MP0003656_abnormal_erythrocyte_physiolo0.94011229
92MP0005670_abnormal_white_adipose0.92698791
93MP0000598_abnormal_liver_morphology0.92080945
94MP0010368_abnormal_lymphatic_system0.91956825
95MP0005423_abnormal_somatic_nervous0.90764085
96MP0003119_abnormal_digestive_system0.90214005
97MP0009764_decreased_sensitivity_to0.89766637
98MP0004085_abnormal_heartbeat0.89352832
99MP0001929_abnormal_gametogenesis0.89350383
100MP0005535_abnormal_body_temperature0.89237102
101MP0005636_abnormal_mineral_homeostasis0.88184407
102MP0001963_abnormal_hearing_physiology0.87668392
103MP0000516_abnormal_urinary_system0.87244386
104MP0005367_renal/urinary_system_phenotyp0.87244386
105MP0008058_abnormal_DNA_repair0.86196827
106MP0002254_reproductive_system_inflammat0.86191050
107MP0003690_abnormal_glial_cell0.85802307
108MP0002095_abnormal_skin_pigmentation0.85272616
109MP0003567_abnormal_fetal_cardiomyocyte0.83669060
110MP0004130_abnormal_muscle_cell0.83018172
111MP0006082_CNS_inflammation0.82974580
112MP0009642_abnormal_blood_homeostasis0.82200780
113MP0002210_abnormal_sex_determination0.82185258
114MP0003329_amyloid_beta_deposits0.81705606
115MP0005174_abnormal_tail_pigmentation0.79833063
116MP0005334_abnormal_fat_pad0.79813671
117MP0002184_abnormal_innervation0.79719728
118MP0002160_abnormal_reproductive_system0.79417791
119MP0002163_abnormal_gland_morphology0.79053060
120MP0002751_abnormal_autonomic_nervous0.78366501
121MP0005389_reproductive_system_phenotype0.78341035
122MP0009763_increased_sensitivity_to0.77791841
123MP0001905_abnormal_dopamine_level0.77322441
124MP0001919_abnormal_reproductive_system0.77103714
125MP0005376_homeostasis/metabolism_phenot0.75952362
126MP0002971_abnormal_brown_adipose0.75312833
127MP0001756_abnormal_urination0.75223114
128MP0005253_abnormal_eye_physiology0.73858752
129MP0001661_extended_life_span0.73353962
130MP0005220_abnormal_exocrine_pancreas0.71184441
131MP0003705_abnormal_hypodermis_morpholog0.70577876
132MP0002837_dystrophic_cardiac_calcinosis0.70464364
133MP0005448_abnormal_energy_balance0.69897838
134MP0002909_abnormal_adrenal_gland0.69878117
135MP0001324_abnormal_eye_pigmentation0.68834630
136MP0000639_abnormal_adrenal_gland0.66824127
137MP0006036_abnormal_mitochondrial_physio0.65333633
138MP0001502_abnormal_circadian_rhythm0.64135899
139MP0006035_abnormal_mitochondrial_morpho0.61427591
140MP0003186_abnormal_redox_activity0.61012279
141MP0008469_abnormal_protein_level0.60823605
142MP0005195_abnormal_posterior_eye0.60531180
143MP0009765_abnormal_xenobiotic_induced0.60327253
144MP0005266_abnormal_metabolism0.59607772
145MP0002229_neurodegeneration0.58484972
146MP0008874_decreased_physiological_sensi0.58169326
147MP0004859_abnormal_synaptic_plasticity0.57255136
148MP0009384_cardiac_valve_regurgitation0.57040892
149MP0000230_abnormal_systemic_arterial0.55128962
150MP0003953_abnormal_hormone_level0.54714419
151MP0005595_abnormal_vascular_smooth0.53844943
152MP0002928_abnormal_bile_duct0.53126254
153MP0008872_abnormal_physiological_respon0.50976833
154MP0005408_hypopigmentation0.48720279
155MP0003075_altered_response_to0.48138654
156MP0004043_abnormal_pH_regulation0.45713355
157MP0003633_abnormal_nervous_system0.45613079
158MP0004782_abnormal_surfactant_physiolog0.43948332
159MP0005646_abnormal_pituitary_gland0.43269553
160MP0005248_abnormal_Harderian_gland0.41501213
161MP0009745_abnormal_behavioral_response0.40889495
162MP0005395_other_phenotype0.39840270
163MP0001944_abnormal_pancreas_morphology0.39761374
164MP0001501_abnormal_sleep_pattern0.39478194
165MP0005187_abnormal_penis_morphology0.38807775
166MP0003632_abnormal_nervous_system0.38433047
167MP0002069_abnormal_eating/drinking_beha0.36812881
168MP0006072_abnormal_retinal_apoptosis0.36754656
169MP0010386_abnormal_urinary_bladder0.36251562
170MP0000579_abnormal_nail_morphology0.36238618
171MP0005666_abnormal_adipose_tissue0.36167329
172MP0003631_nervous_system_phenotype0.35940916
173MP0001984_abnormal_olfaction0.34445170
174MP0003638_abnormal_response/metabolism_0.34375119
175MP0002136_abnormal_kidney_physiology0.33727912
176MP0006276_abnormal_autonomic_nervous0.33607959

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.09393695
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.00580579
3Deep venous thrombosis (HP:0002625)7.00065975
4Prolonged partial thromboplastin time (HP:0003645)6.19614370
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.16210886
6Hypobetalipoproteinemia (HP:0003563)5.79652931
7Xanthomatosis (HP:0000991)5.75159793
8Complement deficiency (HP:0004431)5.40830858
9Hyperlipoproteinemia (HP:0010980)5.18273017
10Hyperglycinemia (HP:0002154)4.75682989
11Joint hemorrhage (HP:0005261)4.39966434
12Hypolipoproteinemia (HP:0010981)4.33839740
13Ketosis (HP:0001946)4.29393020
14Hyperammonemia (HP:0001987)4.24832570
15Abnormality of the common coagulation pathway (HP:0010990)4.20132746
16Epidermoid cyst (HP:0200040)4.18249600
17Conjugated hyperbilirubinemia (HP:0002908)4.03877635
18Pancreatic cysts (HP:0001737)4.00162406
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.90679177
20Hypoalphalipoproteinemia (HP:0003233)3.85964762
21Abnormality of sulfur amino acid metabolism (HP:0004339)3.85638176
22Fat malabsorption (HP:0002630)3.84525736
23Hypoglycemic coma (HP:0001325)3.83573481
24Abnormality of glycine metabolism (HP:0010895)3.83343908
25Abnormality of serine family amino acid metabolism (HP:0010894)3.83343908
26Abnormality of methionine metabolism (HP:0010901)3.83115132
27Hyperglycinuria (HP:0003108)3.82383458
28Abnormality of glutamine family amino acid metabolism (HP:0010902)3.81331914
29Abnormality of complement system (HP:0005339)3.77952466
30Abnormality of aspartate family amino acid metabolism (HP:0010899)3.70866721
31Abnormality of midbrain morphology (HP:0002418)3.67972996
32Molar tooth sign on MRI (HP:0002419)3.67972996
33Pancreatic fibrosis (HP:0100732)3.66917801
34Abnormality of the intrinsic pathway (HP:0010989)3.49022914
35Chronic hepatic failure (HP:0100626)3.39650108
36Abnormality of pyrimidine metabolism (HP:0004353)3.26804304
37True hermaphroditism (HP:0010459)3.22065467
38Hypercholesterolemia (HP:0003124)3.21684419
39Congenital stationary night blindness (HP:0007642)3.20406321
40Ketoacidosis (HP:0001993)3.16278728
41Abnormality of serum amino acid levels (HP:0003112)3.10270340
42Focal motor seizures (HP:0011153)3.07670018
43Inability to walk (HP:0002540)3.05699398
44Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.03986243
45Hyperbilirubinemia (HP:0002904)3.02574117
46Spontaneous abortion (HP:0005268)3.00691240
47Nephronophthisis (HP:0000090)2.98820103
48Abnormality of fatty-acid metabolism (HP:0004359)2.96150045
49Abnormal gallbladder physiology (HP:0012438)2.91280803
50Cholecystitis (HP:0001082)2.91280803
51Delayed CNS myelination (HP:0002188)2.89981818
52Skin nodule (HP:0200036)2.87240628
53Vascular calcification (HP:0004934)2.84888225
54Abnormality of the labia minora (HP:0012880)2.83519794
55Hypoglycemic seizures (HP:0002173)2.78168475
56Gaze-evoked nystagmus (HP:0000640)2.76757628
57Abnormality of the renal cortex (HP:0011035)2.74058556
58Hepatocellular carcinoma (HP:0001402)2.74004467
59Steatorrhea (HP:0002570)2.72726067
60Abnormality of nucleobase metabolism (HP:0010932)2.71417553
61Intestinal atresia (HP:0011100)2.70609348
62Chorioretinal atrophy (HP:0000533)2.66539081
63Hypochromic microcytic anemia (HP:0004840)2.66086958
64Pigmentary retinal degeneration (HP:0001146)2.65998212
65Abnormality of the renal medulla (HP:0100957)2.65727839
66Sensorimotor neuropathy (HP:0007141)2.64221013
67Attenuation of retinal blood vessels (HP:0007843)2.63478407
68Focal seizures (HP:0007359)2.61387126
69Metabolic acidosis (HP:0001942)2.61134545
70Progressive inability to walk (HP:0002505)2.60401636
71Broad-based gait (HP:0002136)2.59287521
723-Methylglutaconic aciduria (HP:0003535)2.57599451
73Myocardial infarction (HP:0001658)2.57287634
74Pendular nystagmus (HP:0012043)2.54157274
75Cardiovascular calcification (HP:0011915)2.52646716
76Mitral stenosis (HP:0001718)2.51727227
77Cystic liver disease (HP:0006706)2.51350912
78Methylmalonic acidemia (HP:0002912)2.50737693
79Abnormal gallbladder morphology (HP:0012437)2.50420958
80Atonic seizures (HP:0010819)2.50341603
81Type II lissencephaly (HP:0007260)2.49238516
82Systemic lupus erythematosus (HP:0002725)2.48963166
83Agitation (HP:0000713)2.47606983
84Abolished electroretinogram (ERG) (HP:0000550)2.44506371
85Dialeptic seizures (HP:0011146)2.44410368
86Abnormality of purine metabolism (HP:0004352)2.43724177
87Gout (HP:0001997)2.41924864
88Medial flaring of the eyebrow (HP:0010747)2.40955637
89Cholelithiasis (HP:0001081)2.40680710
90Malnutrition (HP:0004395)2.39608151
91Hypothermia (HP:0002045)2.36543077
92Hypsarrhythmia (HP:0002521)2.34938026
93Neonatal onset (HP:0003623)2.34670118
94Febrile seizures (HP:0002373)2.33079510
95Lethargy (HP:0001254)2.31925532
96Hyperinsulinemic hypoglycemia (HP:0000825)2.31009392
97Abnormality of dicarboxylic acid metabolism (HP:0010995)2.30211001
98Dicarboxylic aciduria (HP:0003215)2.30211001
99Lissencephaly (HP:0001339)2.30162478
100Limb dystonia (HP:0002451)2.29846792
101Abnormal drinking behavior (HP:0030082)2.28927296
102Polydipsia (HP:0001959)2.28927296
103EEG with generalized epileptiform discharges (HP:0011198)2.27272510
104Genetic anticipation (HP:0003743)2.22392374
105Sclerocornea (HP:0000647)2.21577318
106Acanthocytosis (HP:0001927)2.21365812
107Late onset (HP:0003584)2.20188550
108Irritability (HP:0000737)2.19893915
109Hypoplasia of the fovea (HP:0007750)2.19736501
110Aplasia/Hypoplasia of the fovea (HP:0008060)2.19736501
111Epileptiform EEG discharges (HP:0011182)2.19703146
112Abnormal rod and cone electroretinograms (HP:0008323)2.17810752
113Recurrent gram-negative bacterial infections (HP:0005420)2.17054764
114Glomerulonephritis (HP:0000099)2.16532010
115Acute necrotizing encephalopathy (HP:0006965)2.15442597
116Fair hair (HP:0002286)2.11708996
117Enlarged kidneys (HP:0000105)2.11507642
118Spastic diplegia (HP:0001264)2.11441388
119Abnormality of the gallbladder (HP:0005264)2.11405668
120Brushfield spots (HP:0001088)2.11119731
121Status epilepticus (HP:0002133)2.09878865
122Increased CSF lactate (HP:0002490)2.07680553
123Amyloidosis (HP:0011034)2.07627087
124Polyuria (HP:0000103)2.07528980
125Progressive macrocephaly (HP:0004481)2.05578855
126Hemiparesis (HP:0001269)2.05499166
127Methylmalonic aciduria (HP:0012120)2.04604681
128Mitochondrial inheritance (HP:0001427)2.02994837
129Progressive cerebellar ataxia (HP:0002073)2.02391297
130Absence seizures (HP:0002121)2.01910327
131Tubular atrophy (HP:0000092)2.01707925
132Polyphagia (HP:0002591)1.95995975
133Anencephaly (HP:0002323)1.95639223
134Pancreatitis (HP:0001733)1.94995535
135Symptomatic seizures (HP:0011145)1.94273596
136Hyperglycemia (HP:0003074)1.93940381
137Acute encephalopathy (HP:0006846)1.93844011
138Cerebral edema (HP:0002181)1.91952583
139Renal cortical cysts (HP:0000803)1.91496861
140Vomiting (HP:0002013)1.90931216
141Large for gestational age (HP:0001520)1.89984351
142Thyroid-stimulating hormone excess (HP:0002925)1.89546076
143Male pseudohermaphroditism (HP:0000037)1.89219426
144Central scotoma (HP:0000603)1.88129105
145Abnormality of vitamin metabolism (HP:0100508)1.88124015
146Decreased central vision (HP:0007663)1.88122800
147Aplasia/Hypoplasia of the tibia (HP:0005772)1.85674978
148Optic disc pallor (HP:0000543)1.85628526
149Menorrhagia (HP:0000132)1.85131582
150Pachygyria (HP:0001302)1.84793090
151Hyperventilation (HP:0002883)1.84208390
152Abnormal mitochondria in muscle tissue (HP:0008316)1.84164030
153Optic nerve hypoplasia (HP:0000609)1.83864769
154Congenital, generalized hypertrichosis (HP:0004540)1.83588526
155Gait imbalance (HP:0002141)1.83055365
156Hypomagnesemia (HP:0002917)1.82238629
157Gastrointestinal atresia (HP:0002589)1.80587295
158Hepatocellular necrosis (HP:0001404)1.80185136
159Tubulointerstitial nephritis (HP:0001970)1.79783158
160Absent speech (HP:0001344)1.79089664
161Abnormality of vitamin B metabolism (HP:0004340)1.79059888
162Acute hepatic failure (HP:0006554)1.78962012
163Nephritis (HP:0000123)1.78684562
164Amelogenesis imperfecta (HP:0000705)1.78362643
165Increased corneal curvature (HP:0100692)1.76444233
166Keratoconus (HP:0000563)1.76444233
167Poikilocytosis (HP:0004447)1.74969235
168Pancreatic islet-cell hyperplasia (HP:0004510)1.74959077
169Gingival bleeding (HP:0000225)1.74689924
170Elevated hepatic transaminases (HP:0002910)1.74666412
171Retinal dysplasia (HP:0007973)1.74570801
172Tachypnea (HP:0002789)1.73595380
173Genital tract atresia (HP:0001827)1.73240336
174Protruding tongue (HP:0010808)1.73201635
175Absent rod-and cone-mediated responses on ERG (HP:0007688)1.72805964
176Opisthotonus (HP:0002179)1.72684062
177Bile duct proliferation (HP:0001408)1.72536677
178Abnormal biliary tract physiology (HP:0012439)1.72536677
179Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.71581613
180Abnormality of the fovea (HP:0000493)1.71406058
181Hepatic necrosis (HP:0002605)1.71222058
182Abnormality of proline metabolism (HP:0010907)1.71111761
183Hydroxyprolinuria (HP:0003080)1.71111761
184Occipital encephalocele (HP:0002085)1.70246830
185Retinal atrophy (HP:0001105)1.69830468
186Congenital primary aphakia (HP:0007707)1.69823117
187Aplasia/Hypoplasia of the tongue (HP:0010295)1.69371511
188Congenital sensorineural hearing impairment (HP:0008527)1.68767640
189Bony spicule pigmentary retinopathy (HP:0007737)1.68564931
190Drooling (HP:0002307)1.67736136
191Colon cancer (HP:0003003)1.66814816

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.49436644
2INSRR3.78282879
3EPHA33.27234982
4BMPR1B3.10346002
5ERN13.09647115
6SIK13.08414993
7FGFR42.95607754
8MAP4K22.82071921
9LATS12.79167363
10EPHA42.73096448
11TAOK32.62379597
12ERBB42.48227733
13TRIM282.33013181
14ZAK2.27815097
15MAPK152.15045354
16DAPK22.13472694
17MAP2K42.12568087
18ADRBK22.11228096
19PIK3CG2.08196692
20WNK42.04475779
21STK392.02966369
22PINK11.88006448
23MAP3K131.83793083
24OXSR11.81135306
25PRPF4B1.75893225
26ACVR1B1.71196073
27TNIK1.67448961
28MAPK131.62688881
29MKNK21.57173474
30TAOK21.50162925
31MST1R1.46352933
32STK161.40443752
33STK38L1.38823308
34GRK11.37613237
35EIF2AK31.35811461
36PRKCE1.27382974
37DYRK21.27053487
38PTK2B1.26787947
39CAMKK21.26681567
40MST41.25263344
41CASK1.24881819
42MAP2K71.23156284
43MAP3K71.21866315
44PRKAA21.21225464
45ABL21.20258282
46MAPK111.17766064
47KSR21.15958342
48MAPKAPK31.13798071
49ITK1.13749483
50BCR1.13672709
51PAK61.13499372
52PLK21.12949016
53BRD41.11901392
54PAK31.09788208
55MUSK1.06787961
56PRKCZ1.06251967
57PTK61.04739301
58CAMK2G1.04470450
59PRKAA11.02345690
60MYLK1.02011109
61FRK0.99972636
62ERBB20.97923106
63AKT30.97567983
64KSR10.97119761
65PKN20.95845695
66NME10.95247818
67CAMKK10.94415834
68MAP3K40.94144449
69MAPK120.91730957
70PRKD20.89810353
71STK380.87530384
72WNK30.87123623
73MAP3K90.83503845
74CSNK1A1L0.83314596
75SGK20.81042656
76MKNK10.80680252
77STK30.80508263
78PRKCG0.79627163
79ADRBK10.79341067
80PDGFRA0.78665074
81NLK0.77386944
82NUAK10.75819258
83PDPK10.72677426
84MAP3K120.72574657
85JAK20.72111988
86SGK2230.71978988
87SGK4940.71978988
88CAMK2A0.71906234
89PBK0.70131155
90RIPK10.68838294
91JAK10.68829512
92NTRK30.68694787
93SGK30.68662650
94PNCK0.68224287
95CAMK1D0.68154567
96PRKACG0.67553261
97MAPK40.66207743
98CSNK1A10.63241990
99CSNK1G20.63219888
100FLT30.62152956
101PDK20.61482409
102TAOK10.61325305
103ERBB30.61034066
104TGFBR10.59608678
105MAP3K10.58389440
106SIK30.57281339
107BRSK20.56354764
108PRKCI0.56062355
109TNK20.55633308
110CSNK1G10.55185808
111CAMK2B0.54314284
112DYRK30.54278109
113TIE10.54149287
114EPHB10.54001448
115MAPK70.53860215
116FGFR20.52685571
117PHKG10.52215877
118PHKG20.52215877
119PKN10.51884494
120MINK10.51630410
121PIK3CA0.50588580
122PRKACA0.49561730
123DAPK10.49536363
124MAP2K10.49443849
125PLK30.48732769
126CAMK40.48231788
127TEC0.46947968
128FER0.45567514
129LATS20.45479654
130TRIB30.45165677
131MARK10.45073603
132MAPKAPK50.44995337
133MAP3K60.44415302
134CAMK2D0.44068857
135TSSK60.43826562
136RPS6KA30.43766759
137GSK3A0.43563831
138IRAK20.43288693
139PRKG10.43063532
140PTK20.42782351
141CSNK1D0.41964902
142CAMK10.41659786
143PRKCH0.41478978
144PRKD10.41277323
145CAMK1G0.41018632
146VRK10.40781665
147PRKCQ0.40547363
148PRKCA0.40446320
149MAP3K20.40165066
150TYK20.40126765
151NEK90.38920004
152CSNK1G30.38210265
153MAP2K60.38090919
154STK110.37803862
155NTRK20.36408380
156TYRO30.34923342
157RPS6KA50.33847784
158PLK40.33383287
159PRKACB0.32838302
160TXK0.32562232
161TRPM70.31607169

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.60520584
2Nitrogen metabolism_Homo sapiens_hsa009103.52921760
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.27682869
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.13760932
5Arginine biosynthesis_Homo sapiens_hsa002202.99759961
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.68119617
7Complement and coagulation cascades_Homo sapiens_hsa046102.65374932
8Tryptophan metabolism_Homo sapiens_hsa003802.60485904
9Protein export_Homo sapiens_hsa030602.59552255
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.53107741
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.47862991
12Fatty acid degradation_Homo sapiens_hsa000712.36126426
13Oxidative phosphorylation_Homo sapiens_hsa001902.33440655
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.30628981
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.28606520
16Butanoate metabolism_Homo sapiens_hsa006502.13617562
17Peroxisome_Homo sapiens_hsa041462.02761068
18Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.98261030
19Basal transcription factors_Homo sapiens_hsa030221.94034365
20Pentose and glucuronate interconversions_Homo sapiens_hsa000401.93116866
21RNA polymerase_Homo sapiens_hsa030201.86555926
22Propanoate metabolism_Homo sapiens_hsa006401.84671166
23Histidine metabolism_Homo sapiens_hsa003401.81540104
24Steroid hormone biosynthesis_Homo sapiens_hsa001401.81282033
25PPAR signaling pathway_Homo sapiens_hsa033201.79943221
26Chemical carcinogenesis_Homo sapiens_hsa052041.78449058
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.76659323
28Parkinsons disease_Homo sapiens_hsa050121.75399969
29Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.74918775
30Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.72439200
31Bile secretion_Homo sapiens_hsa049761.70751106
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.70616466
33Fatty acid metabolism_Homo sapiens_hsa012121.70170281
34Retinol metabolism_Homo sapiens_hsa008301.65206414
35beta-Alanine metabolism_Homo sapiens_hsa004101.64102398
36Taste transduction_Homo sapiens_hsa047421.62869635
37Drug metabolism - other enzymes_Homo sapiens_hsa009831.59572214
38Ether lipid metabolism_Homo sapiens_hsa005651.54952359
39Staphylococcus aureus infection_Homo sapiens_hsa051501.54162361
40Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.51104031
41RNA degradation_Homo sapiens_hsa030181.51053253
42Caffeine metabolism_Homo sapiens_hsa002321.49711031
43Phenylalanine metabolism_Homo sapiens_hsa003601.49462503
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.49175108
45ABC transporters_Homo sapiens_hsa020101.46578554
46Non-homologous end-joining_Homo sapiens_hsa034501.45404955
47Pyruvate metabolism_Homo sapiens_hsa006201.42565060
48Selenocompound metabolism_Homo sapiens_hsa004501.41756140
49Sulfur metabolism_Homo sapiens_hsa009201.41252588
50Tyrosine metabolism_Homo sapiens_hsa003501.36723076
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.35094446
52Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.29696220
53Maturity onset diabetes of the young_Homo sapiens_hsa049501.28607807
54Huntingtons disease_Homo sapiens_hsa050161.26255083
55Homologous recombination_Homo sapiens_hsa034401.25429106
56Cysteine and methionine metabolism_Homo sapiens_hsa002701.22691108
57Starch and sucrose metabolism_Homo sapiens_hsa005001.22513745
58Fat digestion and absorption_Homo sapiens_hsa049751.21283674
59Fatty acid elongation_Homo sapiens_hsa000621.20652671
60Collecting duct acid secretion_Homo sapiens_hsa049661.20041125
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18990760
62Phototransduction_Homo sapiens_hsa047441.18953246
63Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.11078815
64Cardiac muscle contraction_Homo sapiens_hsa042601.08503141
65Biosynthesis of amino acids_Homo sapiens_hsa012301.06737773
66Carbon metabolism_Homo sapiens_hsa012001.03155996
67Alzheimers disease_Homo sapiens_hsa050101.02058478
68Folate biosynthesis_Homo sapiens_hsa007901.00320796
69Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.98853795
70Serotonergic synapse_Homo sapiens_hsa047260.95106523
71Fanconi anemia pathway_Homo sapiens_hsa034600.94537248
72Arginine and proline metabolism_Homo sapiens_hsa003300.90291235
73Steroid biosynthesis_Homo sapiens_hsa001000.86468836
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.86422728
75Pyrimidine metabolism_Homo sapiens_hsa002400.83807607
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.82832765
77Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.82369400
78Purine metabolism_Homo sapiens_hsa002300.81876382
79Lysine degradation_Homo sapiens_hsa003100.80888346
80Vitamin B6 metabolism_Homo sapiens_hsa007500.78359500
81Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.77772185
82Glycerolipid metabolism_Homo sapiens_hsa005610.75824688
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.74758727
84Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.72283202
85Vitamin digestion and absorption_Homo sapiens_hsa049770.71345634
86Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.69226270
87Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66986813
88Calcium signaling pathway_Homo sapiens_hsa040200.66703759
89Arachidonic acid metabolism_Homo sapiens_hsa005900.64151000
90Sulfur relay system_Homo sapiens_hsa041220.63120780
91Dorso-ventral axis formation_Homo sapiens_hsa043200.62748192
92Dopaminergic synapse_Homo sapiens_hsa047280.58169740
93RNA transport_Homo sapiens_hsa030130.57585111
94Proteasome_Homo sapiens_hsa030500.56470462
95Prion diseases_Homo sapiens_hsa050200.55430585
96Mineral absorption_Homo sapiens_hsa049780.54862699
97alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.50862250
98Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.50543136
99Salivary secretion_Homo sapiens_hsa049700.50312293
100Amphetamine addiction_Homo sapiens_hsa050310.46721991
101Fatty acid biosynthesis_Homo sapiens_hsa000610.45408416
102Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.42927931
103Linoleic acid metabolism_Homo sapiens_hsa005910.42853522
104Metabolic pathways_Homo sapiens_hsa011000.39021468
105Glutathione metabolism_Homo sapiens_hsa004800.38068293
106GABAergic synapse_Homo sapiens_hsa047270.37009751
107Glucagon signaling pathway_Homo sapiens_hsa049220.36045011
108One carbon pool by folate_Homo sapiens_hsa006700.35163787
109Circadian rhythm_Homo sapiens_hsa047100.35152881
110Sphingolipid metabolism_Homo sapiens_hsa006000.34700592
111Type I diabetes mellitus_Homo sapiens_hsa049400.34571056
112Long-term depression_Homo sapiens_hsa047300.33328502
113Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.33323956
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.29965401
115cAMP signaling pathway_Homo sapiens_hsa040240.29532558
116Galactose metabolism_Homo sapiens_hsa000520.28727966
117Pentose phosphate pathway_Homo sapiens_hsa000300.27865028
118Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.27781173
119Fructose and mannose metabolism_Homo sapiens_hsa000510.27126135
120Insulin resistance_Homo sapiens_hsa049310.23748593
121Nicotine addiction_Homo sapiens_hsa050330.21105024
122Adipocytokine signaling pathway_Homo sapiens_hsa049200.19664537
123Ovarian steroidogenesis_Homo sapiens_hsa049130.18492107
124Glutamatergic synapse_Homo sapiens_hsa047240.14947924
125Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.11724809
126Insulin secretion_Homo sapiens_hsa049110.09782254
127Morphine addiction_Homo sapiens_hsa050320.09338733
128AMPK signaling pathway_Homo sapiens_hsa041520.06300535
129Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.06175755
130Regulation of autophagy_Homo sapiens_hsa041400.02704126
131Aldosterone synthesis and secretion_Homo sapiens_hsa049250.02067994
132Type II diabetes mellitus_Homo sapiens_hsa049300.01841823
133Insulin signaling pathway_Homo sapiens_hsa049100.00319589
134Renin secretion_Homo sapiens_hsa049240.00051631
135Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0852398
136Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.0390371
137Circadian entrainment_Homo sapiens_hsa04713-0.0357157
138Synaptic vesicle cycle_Homo sapiens_hsa04721-0.0255178
139Olfactory transduction_Homo sapiens_hsa04740-0.0071989
140Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0063181

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